Lv623
2740 积分 2025-05-15 加入
Spectrum of variants in a large Chinese Gitelman syndrome cohort
15天前
已完结
Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies
21天前
已完结
[Transient infantile hypertriglyceridemia caused by GPD1 deficiency: report of two cases and literature review]
1个月前
已完结
Mutational analysis ofPMP22, MPZ, GJB1, EGR2 andNEFL in Korean Charcot-Marie-Tooth neuropathy patients
1个月前
已完结
Fetal hydrops caused by a novel pathogenic MECOM variant
2个月前
已完结
A novel KRIT1/CCM1 mutation accompanied by a NOTCH3 mutation in a Chinese family with multiple cerebral cavernous malformations
2个月前
已完结
Molecular and haematological characterisation of haemolytic anaemia associated with biallelic KLF1 mutations: a case series
2个月前
已完结
[Increased sensitivity for detection of mutations in exon 15 of the APC gene in patients with familial adenomatous polyposis]
3个月前
已关闭
Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the GNE genes
4个月前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
4个月前
已完结
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